Variant "BMP15:rs41308602"
Search result: 1 record
Variant information
Gene:
BMP15 
Variant:
BMP15:rs41308602 
dbSNP ID:
rs41308602  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Primary ovarian insufficiency(1)  
Detail：
  • Target disease:
    Blepharophimosis, ptosis, and epicanthus inversus syndrome (Orphanet_126)
    Effect type:
    Expressivity 
    Modifier effect:
    Primary ovarian insufficiency 
    Evidence:
    Assessment of genotype–phenotype associations 
    Effect:
    Associated with phenotypic variability in women with BPES
    Reference:
    PMID25988799
    Title:
    A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis-epicanthus inversus syndrome.
    Species studied:
    Human
    Abstract:
    OBJECTIVE:This study aims to search for mutations in relevant genes in a woman with primary ovarian insufficiency (POI) and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS:This study reports on the case of a woman with POI, BPES, and autoimmune endocrine disorder. Bidirectional sequencing of the coding regions and intron/exon boundaries of FOXL2 and BMP15 genes and hormonal assays for the measurement of follicle-stimulating hormone, luteinizing hormone, estradiol, testosterone, Δ4-androstenedione, and dehydroepiandrosterone sulfate were employed. RESULTS:A novel de novo heterozygous deletion (p.K150Rfs*121) in the FOXL2 gene was identified to coexist with two BMP15 gene variants located in the same allele (c.-9C>G; p.N103S). CONCLUSIONS:The novel, de novo FOXL2 gene mutation (p.K150Rfs*121) expands the spectrum of molecular defects identified in women with BPES. Coexisting gene variants in POI-related genes, such as BMP15, may act synergistically and explain the observed phenotypic variability in women with BPES (ie, BPES with or without POI). The concept of digenic inheritance suggested herein has been previously introduced for other nosologies such as hypogonadotrophic hypogonadism. Endocrine autoimmunity might also contribute to the POI phenotype.